A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14473772



Internal ID5190045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46074150..46090160hg38UCSC Ensembl
Innerchr12:46074165..46090145hg38UCSC Ensembl
Outerchr12:46074135..46090175hg38UCSC Ensembl
chr12:46467933..46483943hg19UCSC Ensembl
Innerchr12:46467948..46483928hg19UCSC Ensembl
Outerchr12:46467918..46483958hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3816011
hg1916011
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629396
Supporting Variants
SamplesNA18610
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14473772
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer